A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657185



Internal ID9576604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3181835..3181916hg38UCSC Ensembl
Outerchr1:3181782..3181991hg38UCSC Ensembl
Innerchr1:3098399..3098480hg19UCSC Ensembl
Outerchr1:3098346..3098555hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5748316, essv6450394, essv5676195, essv5493343, essv5530266, essv6147693, essv6267594, essv5705542, essv6034438, essv6266510, essv6201420, essv5767879, essv6153612, essv6262356, essv5634582, essv6411772, essv5909746, essv5527601, essv5630755, essv5743893, essv6149953, essv6252553, essv6377465, essv5788001, essv5553972, essv6143427, essv5960808, essv5561632, essv6102864, essv5897468, essv6010567, essv5443094, essv5497188, essv6183646, essv6514978, essv6115199, essv5836212, essv5512162, essv5934042, essv6276811, essv6130985, essv6307286, essv5485848, essv6184856, essv5596195, essv5538615, essv5576937, essv5688988, essv6176643, essv6589562, essv5641195, essv5795763, essv5716770, essv6595667, essv6144611, essv6160385, essv6039583, essv5929347, essv6384175, essv5649474, essv5632080, essv5437567, essv5977768, essv6041890, essv6292746, essv6382914, essv6519644, essv5573588, essv6353649, essv5587160, essv5920614, essv5880601, essv5468949, essv6371866, essv5938465, essv6519104, essv5951367, essv6303091, essv5477444, essv5922822, essv6029226, essv6107795, essv6292795, essv5599375, essv6001097, essv5598397, essv5606857, essv6320415, essv5652322, essv6581950, essv5625710, essv6383401, essv5731107, essv5983257, essv5912654, essv6456899, essv5608004, essv5866769, essv5972060, essv6155625, essv5651570, essv5708029, essv6209918, essv5433823, essv5433508, essv5760161, essv6063420, essv5838530, essv6156345, essv6367521, essv5591039, essv6377654, essv6090124, essv6413614, essv6421513, essv5509902, essv5976114, essv6085530, essv6089536, essv6287528, essv6481659, essv5800105, essv5517489, essv6211074, essv6257623, essv6564065, essv6125472, essv6063549, essv5635263, essv6384544, essv5575901, essv6016917, essv6303026, essv5632713, essv5808855, essv5809740, essv6398079, essv5408262, essv5817653, essv5902078, essv5813682, essv5494361, essv5717895, essv5821976, essv5670385, essv5489336, essv6483158, essv6031175, essv6174391, essv5960012, essv5682351, essv6179293, essv6194040, essv5955537, essv5918341, essv5818384, essv5880948, essv5759878, essv5976471, essv6406267, essv6028664, essv6203728
SamplesHG01357, HG01441, HG00380, NA19312, HG00313, HG00152, HG00734, HG01359, NA19436, NA20809, HG00619, HG00344, HG01353, NA18530, HG00418, HG01072, HG01052, NA18933, NA19404, NA19437, HG00705, NA07056, HG00437, HG00369, NA18612, HG00464, NA12347, NA19783, HG00736, HG00310, NA18550, NA18570, NA19435, HG01079, NA20294, NA20802, NA19670, HG00463, NA19317, HG00577, NA19451, NA20529, HG00428, NA18542, HG00739, NA18541, NA19461, NA12058, NA18507, NA20588, NA20805, HG00111, NA18963, NA19685, NA07051, HG00651, HG00737, HG00699, NA12341, NA20803, NA19761, HG00188, HG01171, NA19776, NA19438, NA18868, HG01521, HG00342, HG00115, HG00154, HG01107, NA19463, HG00346, HG01384, HG00250, HG00593, HG00308, HG00337, NA19917, NA19660, NA19675, NA12155, NA19396, HG01124, NA19088, NA18638, HG00098, HG00338, HG00533, HG01360, NA19985, HG01136, HG00264, HG01253, HG00637, HG00276, HG00357, NA19316, NA20341, NA19055, HG00159, NA19080, HG00124, NA19785, NA18620, NA19759, HG01516, HG01191, NA19374, NA19373, NA18986, NA19713, NA20540, HG01073, NA18977, HG00265, HG01069, HG00249, NA18487, HG00277, HG01080, NA19720, HG01070, NA19074, HG01060, HG01383, NA18606, HG00151, NA19235, NA18619, NA18582, NA18999, HG01137, NA18597, HG00590, HG01190, HG01334, HG00580, HG00311, HG01390, NA20513, NA20317, NA11992, NA19749, HG00281, NA19225, NA12399, NA19198, NA20758, HG01251, HG00693, HG00625, HG00690, NA18574, HG01374, HG01462, HG01489, NA19381, NA19758, HG00272, NA19065, HG00312
Known GenesPRDM16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657185
Frequency
Sample Size1151
Observed Gain0
Observed Loss162
Observed Complex0
Frequencyn/a


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